Azmon Rotem, Ezra Kahtan Ben, Hendler Karen, Yahalom Claudia
Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel.
Department of Ophthalmology, Hadassah Medical Center, Jerusalem, Israel.
Eye (Lond). 2025 Sep 12. doi: 10.1038/s41433-025-03987-9.
Inherited retinal diseases (IRDs) are a leading cause of visual impairment in children and young adults. Individuals with IRDs have an increased prevalence of high refractive errors (REs). This study aims to characterise the natural progression of REs in patients with early onset IRDs and identify associations with specific IRDs and genes.
Retrospective cohort study of patients diagnosed with IRD's up to the age of 10 years. Data collected included demographic information, IRD type, molecular analysis (when available), and cycloplegic REs from the first and last visits.
A total of 199 patients (384 refractive measurements) were included in this study. Retinitis Pigmentosa (RP) and Achromatopsia were associated with high hypermetropia in early visits, with a decreasing RE trend over time. CNGA3, CNGB3, and CRB1 were associated with high hypermetropia, remaining high with time in CRB1. In contrast, Congenital Stationary Night Blindness (CSNB) and Blue Cone Monochromacy (BCM) demonstrated high myopia, worsening over time in CSNB, with an increasing rate in high myopia from 51.5% to 69.7% from first to last visit. Mean myopic progression in TRPM1-patients was 0.56 dioptres/year.
In patients with early onset IRDs, refractive errors have a general tendency towards lower spherical equivalents with time. TRPM1-related myopia keeps progressing during the first decade of life, warranting regular screening and consideration of early myopia control interventions to mitigate the risk of myopia-related sight-threatening complications. High hypermetropia is common in RP, staying especially high in CRB1-related cases, highlighting the importance of early screening and refractive correction.
遗传性视网膜疾病（IRD）是儿童和年轻人视力障碍的主要原因。IRD患者中高度屈光不正（RE）的患病率增加。本研究旨在描述早发性IRD患者RE的自然进展，并确定与特定IRD和基因的关联。
对10岁及以下被诊断为IRD的患者进行回顾性队列研究。收集的数据包括人口统计学信息、IRD类型、分子分析（如有）以及首次和末次就诊时的睫状肌麻痹验光结果。
本研究共纳入199例患者（384次屈光测量）。色素性视网膜炎（RP）和全色盲在早期就诊时与高度远视相关，随着时间的推移RE呈下降趋势。CNGA3、CNGB3和CRB1与高度远视相关，CRB1相关的患者随着时间推移仍保持高度远视。相比之下，先天性静止性夜盲（CSNB）和蓝锥单色视（BCM）表现为高度近视，CSNB随时间恶化，从首次就诊到末次就诊，高度近视的发生率从51.5%增加到69.7%。TRPM1相关患者的平均近视进展为每年0.56屈光度。
在早发性IRD患者中，屈光不正总体上有随着时间推移球镜当量降低的趋势。TRPM1相关近视在生命的第一个十年中持续进展，需要定期筛查并考虑早期近视控制干预措施，以降低与近视相关的视力威胁性并发症的风险。高度远视在RP中很常见，在CRB1相关病例中尤其高，凸显了早期筛查和屈光矫正的重要性。
